| H00183 | |
| H number | H00183 |
| Name | Homocystinuria |
| Description | Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. |
| Category | Inherited metabolic disorder |
| Network | nt06030(H00183) Methionine metabolism |
| Gene | CBS [HSA:875] [KO:K01697] MTRR [HSA:4552] [KO:K00597] MTHFR [HSA:4524] [KO:K25004] MTR [HSA:4548] [KO:K00548] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Betaine [DR:D07523] |
| Comment | - |
| Other DBs | ICD-11: 5C50.B ICD-10: E72.1 MeSH: D006712 OMIM: 236200 236270 236250 250940 |
| Reference | PMID:10338090 AUTHORS Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M TITLE Cystathionine beta-synthase mutations in homocystinuria. JOURNAL Hum Mutat 13:362-75 (1999) DOI:10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K PMID:14739681 (CBS) AUTHORS Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V TITLE Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. JOURNAL J Inherit Metab Dis 26:761-73 (2003) DOI:10.1023/B:BOLI.0000009963.88420.c2 PMID:23430521 (MTRR) AUTHORS Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusi V, Sunol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R TITLE cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. JOURNAL JIMD Rep 8:57-62 (2013) DOI:10.1007/8904_2012_161 PMID:9781030 (MTHFR) AUTHORS Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ TITLE Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. JOURNAL Eur J Hum Genet 6:257-65 (1998) DOI:10.1038/sj.ejhg.5200182 PMID:12068375 (MTR) AUTHORS Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS TITLE Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. JOURNAL Am J Hum Genet 71:143-53 (2002) DOI:10.1086/341354 |